ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.11T>A (p.Leu4His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294699 SCV002587610 uncertain significance Atypical hemolytic-uremic syndrome 2022-07-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101703 SCV003292134 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 4 of the CFI protein (p.Leu4His). This variant is present in population databases (rs374141986, gnomAD 0.05%). This missense change has been observed in individual(s) with secondary hemolytic uremic syndrome (PMID: 30982675). ClinVar contains an entry for this variant (Variation ID: 1712444). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFI protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV003101703 SCV004227016 uncertain significance not provided 2022-04-11 criteria provided, single submitter clinical testing BP4

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